| Panel name | NGS Osteogenesis imperfecta and related disorders |
|---|---|
| Panel method | Targeted NGS |
| Panel version ** | v5.0 |
| Panel quality *** | A/C |
| Core-NL | 8 core-NL genes included |
| CNV analysis | Yes |
| Location | Location VUmc |
| Genes (49) | Quality | % coverage >30 | % coverage >20 | Core-NL | Note |
|---|---|---|---|---|---|
| ALPL | A | 100 | 100 | core-NL | |
| AMBN | C | 100 | 100 | optioneel | |
| B3GALT6 | C | 100 | 100 | ||
| B3GAT3 | C | 100 | 100 | ||
| B4GALT7 | C | 100 | 100 | ||
| BMP1 | C | 100 | 100 | ||
| CCDC134 | C | 100 | 100 | ||
| CHST3 | C | 100 | 100 | ||
| COL1A1 | A | 100 | 100 | core-NL | |
| COL1A2 | A | 100 | 100 | core-NL | |
| COPB2 | C | ||||
| CREB3L1 | C | 100 | 100 | ||
| CRTAP | C | 100 | 100 | ||
| DSPP | A | 100 | 100 | optioneel | |
| EMILIN1 | |||||
| FKBP10 | C | 100 | 100 | ||
| GORAB | C | 100 | 100 | ||
| IFITM5 | A | 100 | 100 | core-NL | |
| KDELR2 | C | 100 | 100 | ||
| KIF5B | C | ||||
| LIFR | C | 100 | 100 | ||
| LRP5 | A | 100 | 100 | core-NL | |
| MBTPS2 | C | 100 | 100 | ||
| MESD | C | 100 | 100 | ||
| MIA3 | C | ||||
| NBAS | C | 100 | 100 | ||
| P3H1 | C | 100 | 100 | ||
| P4HA1 | C | 100 | 100 | ||
| P4HB | C | 100 | 100 | ||
| PHLDB1 | C | ||||
| PLOD2 | C | 100 | 100 | ||
| PLOD3 | C | 100 | 100 | ||
| PLS3 | A | 100 | 100 | core-NL | |
| PPIB | C | 100 | 100 | ||
| SEC16B | C | ||||
| SEC24D | C | 100 | 100 | ||
| SERPINF1 | C | 100 | 100 | ||
| SERPINH1 | C | 100 | 100 | ||
| SGMS2 | C | 100 | 100 | ||
| SLC10A7 | C | 100 | 100 | ||
| SP7 | C | 100 | 100 | ||
| SPARC | C | 100 | 100 | ||
| TAPT1 | C | 100 | 100 | ||
| TENT5A | C | 100 | 100 | ||
| TMEM38B | C | 100 | 100 | ||
| WNT1 | C | 100 | 100 | core-NL | |
| WNT11 | A | 100 | 100 | core-NL | |
| XYLT1 | C | 100 | 100 | ||
| XYLT2 | C | 100 | 100 |
| Indication(s) |
|---|
| Bruck syndrome |
| Dentinogenesis imperfecta |
| Hypophosphatasia |
| Lysyl Hydroxylase 3 deficiency LH3 |
| Osteogenesis imperfecta all types OI |
| Osteoporosis early onset |
| Osteoporosis-pseudoglioma syndrome |
** For information on previous versions of this panel, please contact the Genome Diagnostics Laboratory
*** NGS panel genes can be analyzed with different quality. More info about test quality type A, C or A/C